ClinVar Miner

List of variants in gene AMER1 studied for bone remodeling disease

Included ClinVar conditions (104):
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) rs138399473 0.00183
NM_152424.4(AMER1):c.401A>C (p.His134Pro) rs146489129 0.00149
NM_152424.4(AMER1):c.918G>A (p.Gly306=) rs147299494 0.00094
NM_152424.4(AMER1):c.3408G>A (p.Ter1136=) rs372461050 0.00086
NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys) rs144896730 0.00043
NM_152424.4(AMER1):c.742C>A (p.Pro248Thr) rs149688443 0.00017
NM_152424.4(AMER1):c.2884G>A (p.Ala962Thr) rs777905301 0.00005
NM_152424.4(AMER1):c.171G>T (p.Met57Ile) rs965178548 0.00001
NM_152424.4(AMER1):c.2029T>C (p.Ser677Pro) rs201053898 0.00001
NM_152424.4(AMER1):c.3130A>G (p.Met1044Val) rs369116388 0.00001
NC_000023.11:g.(64175170_64275169)del
NM_152424.4(AMER1):c.1000G>T (p.Glu334Ter) rs2147089265
NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter) rs137852216
NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter) rs137852217
NM_152424.4(AMER1):c.1073G>A (p.Arg358Gln)
NM_152424.4(AMER1):c.1076G>C (p.Ser359Thr)
NM_152424.4(AMER1):c.1104_1105dup (p.Gly369fs)
NM_152424.4(AMER1):c.1267del (p.Leu423fs) rs398122877
NM_152424.4(AMER1):c.1305C>G (p.Gly435=) rs761740157
NM_152424.4(AMER1):c.1384del (p.Glu462fs) rs1602067633
NM_152424.4(AMER1):c.1460T>A (p.Leu487Gln)
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter) rs1930251154
NM_152424.4(AMER1):c.1575_1590del (p.Tyr526fs)
NM_152424.4(AMER1):c.179_180del (p.Phe60fs) rs2147091121
NM_152424.4(AMER1):c.2048C>G (p.Ser683Ter) rs1930237390
NM_152424.4(AMER1):c.2363G>A (p.Cys788Tyr) rs1269339307
NM_152424.4(AMER1):c.2875C>A (p.Pro959Thr)
NM_152424.4(AMER1):c.3010T>C (p.Ser1004Pro)
NM_152424.4(AMER1):c.3266G>C (p.Arg1089Thr)
NM_152424.4(AMER1):c.3286C>T (p.Gln1096Ter)
NM_152424.4(AMER1):c.3328T>A (p.Ser1110Thr) rs1930205301
NM_152424.4(AMER1):c.3369C>G (p.Ser1123Arg)
NM_152424.4(AMER1):c.429T>A (p.Cys143Ter) rs387906722
NM_152424.4(AMER1):c.50C>G (p.Ser17Cys)
NM_152424.4(AMER1):c.555_556del (p.Gly186_Ala187insTer) rs1930280217
NM_152424.4(AMER1):c.565C>T (p.Gln189Ter) rs1602068260
NM_152424.4(AMER1):c.655del (p.Glu219fs) rs1555933578
NM_152424.4(AMER1):c.671del (p.Pro224fs) rs1569192315
NM_152424.4(AMER1):c.71C>T (p.Thr24Ile) rs1930297677
NM_152424.4(AMER1):c.780dup (p.Pro261fs) rs1569192251
NM_152424.4(AMER1):c.811C>T (p.Gln271Ter) rs387907269
NM_152424.4(AMER1):c.877del (p.Lys292_Val293insTer)

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